Varaico: Literature-Extracted Genetic Variants

Gene:MYLK2
Variant:p.A87V
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MYLK2

NM_033118.4:p.A87V

Associated Papers

Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.

Qu HQ et al.

Journal of Molecular Medicine (berlin, Germany), 2025

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Ingles J et al.

Circulation. Genomic and Precision Medicine, 2019

30681346 (PubMed )
Supplement: hcg-12-e002460-s002.xlsx › Suppl_Table_8

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

Walsh R et al.

European Heart Journal, 2017

28082330 (PubMed )
Supplement: ehw603_supplementary_tables_s1_s5_s7.xlsx › Table_S5

Using high-resolution variant frequencies to empower clinical genome interpretation.

Whiffin N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28518168 (PubMed )
Supplement: gim201726x1.pdf

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S12

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

Andreasen C et al.

European Journal of Human Genetics : Ejhg, 2013

The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation.

Davis JS et al.

Cell, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."